• 한국자원식물학회지
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• 제32권4호
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• pp.303-311
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• 2019

과피와 과육의 다양한 색은 복숭아 분류에 가장 널리 사용되는 상업적 기준 중 하나이다. 새로운 적색 과육 품종을 육성하기 위해서는 많은 교배 조합과 세대가 진전되어야 한다. 따라서 육종 효율을 높이기 위해서는 목적 형질을 가진 개체에 적용할 조기 선발 분자표지를 개발할 필요가 있다. 과육색이 다르게 발현되는 복숭아 품종의 유전자 발현을 비교하기 위해 2개의 cDNA library를 제작하였다. 적색 과육 품종인 '조생혈도'와 백색 과육 품종인 '미백도'의 유전자 발현 차이를 보기 위해 차세대 염기서열 분석(NGS) 기술을 사용하였고, 두 품종으로부터 얻은 EST의 염기서열을 결정하고 기존에 보고된 유전자와의 상동성을 분석하였다. '조생혈도'와 '미백도'의 EST database로부터 72쌍의 SNP 분자표지를 선발하였고, 적색 과육 품종 8개와 백색 과육 품종 24개를 구분할 수 있는 SNP 분자표지를 HRM 방법으로 분석하였다. 본 연구에서는 복숭아 EST database를 기반으로 HRM 분석 방법을 이용하여 복숭아 품종의 적육계와 백육계를 구분할 수 있는 효율적인 SNP 분자표지를 개발하였다. 이러한 SNP 분자표지는 복숭아 육종에 유용하게 사용할 수 있으며, 복숭아 품종의 다양한 색 변화에 관한 분자 기작 연구에 좋은 참고자료가 될 수 있을 것이다.

• Asian-Australasian Journal of Animal Sciences
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• 제23권11호
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• pp.1405-1411
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• 2010

Calpastatin (CAST), an endogenous inhibitor of the calpains, plays an important role in post-mortem tenderization of meat. The objectives of this study were to investigate single nucleotide polymorphisms (SNPs) in the bovine CAST gene and association with carcass and meat quality traits. A total of 212 cattle from commercial herds were tested in this study including 2 pure introduced breeds, 4 cross populations, and 3 pure Chinese native breeds. Five SNPs were identified at position 2959 (A/G), 2870 (G/A), 3088 (C/T), 3029 (G/A) and 2857 (C/T) in the CAST gene (GenBank Accession No. AF159246). Allele frequencies of SNP2959 and SNP2870 were 0.701 (A) and 0.462 (A), respectively. A general linear model was used to evaluate the associations between the two markers and 7 traits. The results showed that both SNP2959 and SNP2870 were significantly (p<0.01) associated with the Warner-Bratzler shear force (WBSF), while they had no significant association with the other 6 traits in the whole population. However, in Chinese native pure breeds, only SNP2870 had significant association with WBSF (p<0.05). The simultaneous analysis of two-marker genotype effects indicated animals containing the A/G haplotype (A for SNP2959 and G for SNP2870) tended to have lower shear force than those containing the G/A haplotype, and, especially, animals homozygous for the A/G haplotype had approximately 2 kg lower shear force than those homozygous for the G/A haplotype (p<0.01). These results suggested that both markers may be effective for the marker-assisted selection of meat quality traits in Chinese commercial herds, especially SNP2870 which can be used for Chinese native cattle.

• Asian-Australasian Journal of Animal Sciences
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• 제31권3호
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• pp.309-315
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• 2018

Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through a tool for prediction of TF-binding site (PROMO). A general linear model was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance. Results: Quantitative polymerase chain reaction analysis showed that expression level of ERRFI1 after exercise was 1.6 times higher than that before exercise. Ten transcription factors were predicted from the ERRFI1 regulatory region. A novel nsSNP (LOC42830758 A to G) was found in ERRFI1, which was associated with three racing traits including average prize money, average racing index, and 3-year-old starts percentile ranking. Conclusion: Our analysis will be helpful as a basis for studying genes and SNPs that affect race performance in racehorses.

• 한국가금학회지
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• 제45권3호
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• pp.209-217
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• 2018

The innate immune recognition is based on the detection of microbial products. Toll-like receptors (TLRs) located on the cell surface and the endosome senses microbial components and nucleic acids, respectively. Chicken TLRs mediate immune responses by sensing ligands from pathogens, have been studied as immune adjuvants to increase the efficacy of vaccines. Single nucleotide polymorphisms (SNPs) of TLR3 and TLR4 genes in chicken were associated with resistance and susceptibility to viral infection. In this study, SNPs of chTLR3 and chTLR4 genes were retrieved from public database and annotated with chicken reference genome. Three-dimensional models of the chTLR3 and chTLR4 proteins were built using a Swiss modeler. We identified 35 and 13 nsSNPs in chTLR3 and chTLR4 genes respectively. Sorting Intolerant from Tolerant (SIFT) and Polymorphism Phenotyping v2 (Polyphen-2) analyses, suggested that, out of 35 and 13 nsSNPs, 4 and 2 SNPs were identified to be deleterious in chTLR3 and chTLR4 gene respectively. In chTLR3, 1 deleterious SNP was located in ectodomain and 3 were located in the Toll / IL-1 receptor (TIR) domain. Further structural model of chTLR3-TIR domain suggested that 1 deleterious SNP be present in the B-B loop region, which is important for TIR-TIR domain interactions in the downstream signaling. In chTLR4, the deleterious SNPs were located both in the ectodomain and TIR domain. SNPs predicted for chTLR3 and chTLR4 in this study, might be related to resistance or susceptible to viral infection in chickens. Results from this study will be useful to develop the effective measures in chicken against infectious diseases.

• 응용통계연구
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• 제28권3호
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• pp.407-415
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• 2015

단순 베이즈 분류($Na{\ddot{i}}ve$ Bayes classification)는 출력변수가 주어졌을 때 입력변수들이 조건부 독립이라는 가정에 기반한다. 단순 베이즈 가정은 비현실적이지만 고차원의 확률 추정 문제를 일련의 일차원 확률 추정 문제로 단순화 시킨다는 장점이 있으며, 특히 스팸 메일 필터링, 추천 시스템(recommendation system) 등 방대한 데이터를 다루는 분야야에서 흔히 사용된다. 본 논문에서는 입력변수와 출력변수간의 카이제곱 통계량에 기반한 변수선택법을 제안한다. 이 방법은 단순 베이즈 분류의 장점인 데이터 처리 및 계산의 단순성을 유지하면서도 설명력이 있는 변수를 선택할 수 있으며 SNP(single nucleotide polymorphism)에 의한 질병의 분류 등의 초고차원 혹은 빅데이터에서 유용할 것으로 기대된다.

• 정보처리학회논문지B
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• 제18B권2호
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• pp.67-72
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• 2011

단일염기다형성은 인간 게놈 구조 연구의 중요한 도구이다. 대량의 유전자 표현형 데이터에서의 군집 분석은 생물학적으로 연관이 있는 유전자 군을 발견하거나 유전자간 상호작용 네트워크를 생성하는데 유용하다. 본 논문에서는 엔트로피 거리를 기반으로 계층적 군집 분석 방법을 사용하여 천식환자군과 정상대조군의 군집을 형성하고 비교하였고 5개짜리 군집에서 두 군의 의미 있는 차이점이 나타남을 보였다. 천식환자군의 각 군집에서의 대표 SNP들의 조합의 질병 예측 정확도를 지지벡터기계를 이용하여 측정하여, 천식의 두 유형을 진단할 수 있는 최상의 조합을 찾았다. 최상의 조합은 유전자 ALOX12에 있는 단일염기다형성을 포함한 5개로 구성된 모델이며 66.41%의 아스피린 내성 천식 질병에 대한 예측 정확도를 갖는다.

• Journal of the Korean Data and Information Science Society
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• 제24권6호
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• pp.1331-1339
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• 2013

지질 단백질 리파제 (lipoprotein lipase; LPL) 유전자는 지방산 합성을 조절하는 유전자로 알려져 있다. 특히, 한우의 LPL 유전자 내의 지방산 합성과 단일염기다형성 (SNP) 사이의 유전적 연관성이 밝혔진 바 있다. 최근에는 LPL 유전자 내의 3가지 SNP 즉, c.322G>A, c.329A>T 그리고 c.1591G>A는 한우의 불포화 지방산 조성과 도체형질과 관련된 새로운 유전자로 밝혀진 바 있다 (Oh 등; 2013). 본 논문은 최근 밝혀진 3개의 새로운 LPL 유전자를 활용 한우의 도체경제형질은 물론 맛과 향이 좋은 여러 경제형질에 영향을 주는 우수 유전자 조합을 선별하려 하였다. 우수 유전자 선별 조합을 선별하기 위해 유전자 조합 방법으로 많이 활용되는 다중인자 차원 축소 방법을 이용하였다. 순수 유전자 효과만의 결과를 활용하기 위해 실험에서 얻어진 자료의 환경요인을 보정한 후 분석을 시도하였다 (Matsuhashi 등, 2011).

• Asian-Australasian Journal of Animal Sciences
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• 제28권4호
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• pp.568-572
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• 2015

Acetes chinensis is an economically important shrimp that belongs to the Sergestidae family; following fermentation, A. chinensis' economic value, however, is low in China, and much of the catch in China is exported to Korea at a low price, thus leading to potential false labeling. For this reason, we developed a simple method to identify A. chinensis' origin using allele-specific polymerase chain reaction (PCR). Ten single nucleotide polymorphisms (SNPs) were identified from partial (i.e., 570 bp) DNA sequence analysis of the mitochondrial 16s rRNA gene in 96 Korean and 96 Chinese individual shrimp. Among 10 SNP sites, four sites were observed in populations from both countries, and two sites located in the middle with SNP sites at their 3'-ends were used to design allele-specific primers. Among the eight internal primers, the C220F primer specific to the Chinese A. chinensis population amplified a DNA fragment of 364 bp only from that population. We were able to identify the A. chinensis population origin with 100% accuracy using multiplex PCR performed with two external primers and C220F primers. These results show that the 16S rRNA gene that is generally used for the identification of species can be used for the identification of the origin within species of A. chinensis, which is an important finding for the fair trade of the species between Korea and China.

• Journal of Animal Science and Technology
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• 제55권6호
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• pp.515-520
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• 2013

Pyruvate kinase M2 (PKM2) is a key regulatory enzyme in the glycolytic pathway. It is one of four pyruvate kinase isoenzymes that widely differ in their occurrence according to tissue type. PKM2 is expressed in differentiated tissues, such as fat tissues, lung, as well as normal proliferating cells, embryonic cells, and tumor cells. The objective of this study was to investigate the association of single nucleotide polymorphisms (SNPs) in the PKM2 gene with meat quality traits in Berkshire pigs. We detected a SNP (g.34341 A>G) in the 3'UTR region of the PKM2 gene in 670 Berkshire pigs through DNA sequencing. Three genotypes, AA, AG, and GG, were found for this SNP, but based on an association analysis with meat quality traits, genotype AA was significantly associated with thicker back fat than genotype GG (p=0.027). Therefore, the g.34341 A>G polymorphism in the 3'UTR region of the porcine PKM2 gene could be applied in pig breeding programs to improve back fat thickness.

• Asian-Australasian Journal of Animal Sciences
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• 제31권12호
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• pp.1843-1851
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• 2018

Objective: We aimed to characterize linkage disequilibrium (LD) and effective population size ($N_e$) in a Korean Yorkshire population using genomic data from thousands of individuals. Methods: We genotyped 2,470 Yorkshire individuals from four major Grand-Grand-Parent farms in Korea using the Illumina PorcineSNP60 version2 BeadChip, which covers >61,565 single nucleotide polymorphisms (SNPs) located across all chromosomes and mitochondria. We estimated the expected LD and inferred current $N_e$ as well as ancestral $N_e$. Results: We identified 61,565 SNP from autosomes, mitochondria, and sex chromosomes and characterized the LD of the Yorkshire population, which was relatively high between closely linked markers (>0.55 at 50 kb) and declined with increasing genetic distance. The current $N_e$ of this Korean Yorkshire population was 122.87 (106.90; 138.84), while the historical $N_e$ of Yorkshire pigs suggests that the ancestor $N_e$ has decreased by 99.6% over the last 10,000 generations. Conclusion: To maintain genetic diversity of a domesticated animal population, we must carefully consider appropriate breed management methods to avoid inbreeding. Although attenuated selection can affect short-term genetic gain, it is essential for maintaining the long-term genetic variability of the Korean Yorkshire population. Continuous and long-term monitoring would also be needed to maintain the pig population to avoid an unintended reduction of $N_e$. The best way to preserve a sustainable population is to maintain a sufficient $N_e$.